Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too.

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-03-01 DOI:10.1055/s-0040-1721137
Aakash Chandran Chidambaram, Milan Talwar, Ananthanarayanan Kasinathan, Reena Gulati, Tamil Selvan
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Abstract

Pyridoxine-dependent epilepsy (PDE) (OMIM 266100) is an autosomal recessive disorder of lysine metabolism secondary to antiquitin deficiency. The prototypical presentation is intractable neonatal seizures that do not respond to conventional antiseizure medication but are well controlled by pyridoxine supplementation. Atypical forms account for one-third of the PDE spectrum and may escape early diagnosis. The common atypical presentations include the prenatal onset of seizures, seizures onset as delayed as 3 years of age, autism, arrested hydrocephalus, and fetal ventriculomegaly. Herein, we describe a 9-month-old child with neonatal-onset refractory seizures who failed two short trials of pyridoxine therapy and was later diagnosed with PDE by molecular studies. Regardless of the therapeutic response, a prolonged course of pyridoxine therapy is justified to identify delayed responders in infants with drug-refractory epilepsy of no apparent etiology.

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吡哆醇治疗:不只是剂量,持续时间也很重要。
吡哆醇依赖性癫痫(PDE) (OMIM 266100)是赖氨酸代谢的常染色体隐性遗传病继发于抗黄素缺乏。典型的表现是难治性新生儿癫痫发作,对传统的抗癫痫药物没有反应,但通过补充吡哆醇可以很好地控制。非典型形式占PDE频谱的三分之一,可能逃避早期诊断。常见的非典型表现包括产前癫痫发作,癫痫发作延迟至3岁,自闭症,脑积水和胎儿脑室肿大。在本文中,我们描述了一个9个月大的婴儿,他患有新生儿起病的难治性癫痫,两次吡哆醇治疗的短期试验失败,后来通过分子研究被诊断为PDE。无论治疗反应如何,延长吡哆醇治疗的疗程是合理的,以确定没有明显病因的药物难治性癫痫患儿的延迟反应。
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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